A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752138



Internal ID12639004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102717873..103146688hg38UCSC Ensembl
Innerchr7:102358320..102787135hg19UCSC Ensembl
Innerchr7:102145556..102574371hg18UCSC Ensembl
Innerchr7:101952271..102381086hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38428816
hg19428816
hg18428816
hg17428816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985828, essv6990150, essv6985827, essv6985826, essv6989503
SamplesSPC_61
Known GenesARMC10, FAM185A, FBXL13, LRRC17, NAPEPLD, RPL19P12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752138
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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